Results 71 to 80 of about 2,529,505 (194)

CADASIL: A NOTCH3-associated cerebral small vessel disease

Journal of Advanced Research
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease (CSVD), pathologically characterized by a non-atherosclerotic and non-amyloid ...
Lamei Yuan, Xiangyu Chen, Joseph Jankovic, Hao Deng   +3 more
doaj   +1 more source

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Analyses of NOTCH3 variants in Chinese patients with clinically diagnosed Alzheimer's disease and frontotemporal dementia

Alzheimer’s Research & Therapy
Background A pathogenic variant in the NOTCH3 gene has been identified as the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Studies focusing on variants in NOTCH3 in Alzheimer's disease (AD)
Haitian Nan, Min Chu, Ailing Yue, Qianqian He, Jieying Li, Yanchen Liu, Lijun Chi, Xiaoyan Liu, Guoping Peng, Liyong Wu   +9 more
doaj   +1 more source

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report

BMC Neurology, 2020
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in NOTCH3 gene with remarkable phenotypic heterogeneity.
Ruojie He, Huan Li, Yiming Sun, Menglong Chen, Liang Wang, Yuling Zhu, Cheng Zhang   +6 more
doaj   +1 more source

Framework for headache management in pediatric patients with stroke and cerebrovascular lesions: A narrative review

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Objective To present a practical, evidence‐based framework for the management of headache disorders in pediatric patients with prior stroke or underlying cerebral vascular lesions, with particular attention to safety and efficacy of pharmacologic and non‐pharmacologic therapies.
Allison C. Hyland, Samuel J. Belfer, Christine K. Fox, Samantha L. Irwin, Rachel Vassar, Ann Oh, Sruthi Ilangovan, Amy A. Gelfand   +7 more
wiley   +1 more source

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL

, 2004
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and
GABRIELE AL, CENACCHI, GIOVANNA, CONFORTI FL, LANZA PL, SANTORO G, QUATTRONE A., MAGARIELLO A, BONO F, LUPO MR, PATITUCCI A, FERA F, MAZZEI R, VALENTINO P, CARACCIOLO M, MUGLIA M, GALLO O, SPROVIERI T   +16 more
core   +1 more source

Reduced SUMOylation impairs NOTCH3 signaling and cell survival in the pathogenesis of CADASIL

Cell Communication and Signaling
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by NOTCH3 mutation.
Lijun Long, Danni Wu, Xiaoyan Xiong, Huihui Xiong, Xuecheng Qiu, Suning Ping   +5 more
doaj   +1 more source

NOTCH3 Gene Polymorphism is Associated With the Prognosis of Gliomas in Chinese Patients

Medicine, 2015
Recent studies show that NOTCH3 is involved in the glioma development and it is also a prognostic factor for glioma patients. However, the gene polymorphism of NOTCH3 in gliomas prognosis remains unknown.A total of 266 patients were enrolled into this study.
Shen, Zhipeng, Hou, Xuwei, Chen, Bo, Chen, Peng, Zhang, Qing   +4 more
openaire   +2 more sources

Poorly differentiated lung adenocarcinomas with concurrent ALK and CD30 expression: a diagnostic pitfall mimicking ALK‐positive anaplastic large‐cell lymphoma

Histopathology, EarlyView.
Poorly differentiated lung adenocarcinomas with concurrent anaplastic lymphoma kinase (ALK) and CD30 expression closely mimic ALK‐positive anaplastic large‐cell lymphoma, creating a significant diagnostic pitfall. Accurate classification requires comprehensive integration of clinical, radiologic, morphologic, immunophenotypic and molecular findings ...
Jietian Jin, Wenjian Cen, Qin Yan, Yangshan Chen, Chaoyun Huang, Yanfeng Feng, Neng Jiang   +6 more
wiley   +1 more source

Two Japanese CADASIL Families with a R141C Mutation in the Notch3 Gene.

Internal Medicine, 2001
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary disease characterized by recurrent transient ischemic attacks (TIA) and strokes, and vascular dementia with Notch3 gene mutations as the cause of the disease.
MURAKAMI, Tetsuro, IWATSUKI, Kaori, HAYASHI, Takeshi, SATO, Keiko, MATSUBARA, Etsuro, NAGANO, Isao, MANABE, Yasuhiro, SHOJI, Mikio, ABE, Koji   +8 more
openaire   +3 more sources